Canonical Allele Identifier: CA403381090

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090682-C-G
• MyVariant Identifiers: chr19:g.4090680C>G (hg19) ; chr19:g.4090682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090682C>G , CM000681.2:g.4090682C>G	GRCh38
NC_000019.9:g.4090680C>G , CM000681.1:g.4090680C>G	GRCh37
NC_000019.8:g.4041680C>G	NCBI36
NG_007996.1:g.38447G>C , LRG_750:g.38447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1558G>C
ENST00000688002.1:n.3270G>C
ENST00000688751.1:n.255G>C
ENST00000689792.1:n.1023G>C
ENST00000262948.10:c.1119G>C MANE Select	ENSP00000262948.4:p.Glu373Asp
ENST00000262948.9:c.1119G>C	ENSP00000262948.3:p.Glu373Asp
ENST00000394867.8:c.828G>C	ENSP00000378336.1:p.Glu276Asp
ENST00000597263.5:n.304G>C
ENST00000599021.1:c.229G>C
ENST00000600584.5:n.2568G>C
ENST00000601786.5:n.1420G>C
NM_030662.3:c.1119G>C , LRG_750t1:c.1119G>C	NP_109587.1:p.Glu373Asp
XM_006722799.2:c.840G>C	XP_006722862.1:p.Glu280Asp
XM_011528133.1:c.549G>C	XP_011526435.1:p.Glu183Asp
NM_030662.4:c.1119G>C MANE Select	NP_109587.1:p.Glu373Asp